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Aliases for CEP295NL Gene

Aliases for CEP295NL Gene

  • CEP295 N-Terminal Like 2 3 5
  • KIAA1731 N-Terminal Like Protein 3 4
  • KIAA1731NL 3 4
  • Differential Display Clone 8 3
  • KIAA1731 N-Terminal Like 2
  • Protein DDC8 Homolog 3
  • DDC8 3

External Ids for CEP295NL Gene

Previous HGNC Symbols for CEP295NL Gene

  • KIAA1731NL

Summaries for CEP295NL Gene

GeneCards Summary for CEP295NL Gene

CEP295NL (CEP295 N-Terminal Like) is a Protein Coding gene. An important paralog of this gene is CEP295.

Additional gene information for CEP295NL Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEP295NL Gene

Genomics for CEP295NL Gene

GeneHancer (GH) Regulatory Elements for CEP295NL Gene

Promoters and enhancers for CEP295NL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I078902 Promoter/Enhancer 1.4 EPDnew ENCODE dbSUPER 550.8 -0.1 -56 1.2 MXI1 ZBTB21 SIN3A BMI1 ZIC2 RFX5 ZFHX2 GLIS2 POLR2A PATZ1 ENSG00000267491 CEP295NL TMC8 GC17P078899 TIMP2 PIR33852
GH17I078901 Enhancer 0.4 dbSUPER 560.8 +1.4 1390 0.9 CHD4 MNT CEP295NL ENSG00000267491 TMC8 GC17P078899 TIMP2
GH17I078919 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.7 -20.0 -19988 6.7 PKNOX1 ARID4B SIN3A TCF12 GLIS2 KLF7 ATF7 SP3 NCOA1 NFYC TIMP2 PIR33852 ENSG00000267491 CANT1 CEP295NL CYTH1
GH17I078894 Enhancer 1 Ensembl ENCODE dbSUPER 10.9 +5.2 5208 6.3 SCRT1 RING1 SIN3A MNT REST ZIC2 NR2F2 HIC1 SCRT2 KLF9 GC17P078899 ENSG00000279339 USP36 CEP295NL ENSG00000267491 ENGASE TIMP2
GH17I078910 Enhancer 1.1 Ensembl ENCODE dbSUPER 9.8 -9.0 -8966 4 HDAC1 KLF1 ZFP64 ZNF384 ZBTB40 ZNF697 ZNF664 ZNF157 FOXK2 KLF7 USP36 TNRC6C ENSG00000267491 CEP295NL PIR33852 TIMP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CEP295NL on UCSC Golden Path with GeneCards custom track

Genomic Locations for CEP295NL Gene

Genomic Locations for CEP295NL Gene
chr17:78,870,910-78,903,217
(GRCh38/hg38)
Size:
32,308 bases
Orientation:
Minus strand
chr17:76,866,992-76,899,299
(GRCh37/hg19)

Genomic View for CEP295NL Gene

Genes around CEP295NL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP295NL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEP295NL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP295NL Gene

Proteins for CEP295NL Gene

  • Protein details for CEP295NL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96MC4-C295L_HUMAN
    Recommended name:
    CEP295 N-terminal-like protein
    Protein Accession:
    Q96MC4

    Protein attributes for CEP295NL Gene

    Size:
    621 amino acids
    Molecular mass:
    69839 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CEP295NL Gene

Post-translational modifications for CEP295NL Gene

No Post-translational modifications

Other Protein References for CEP295NL Gene

No data available for DME Specific Peptides for CEP295NL Gene

Domains & Families for CEP295NL Gene

Gene Families for CEP295NL Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CEP295NL Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CEP295NL: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for CEP295NL Gene

Function for CEP295NL Gene

Phenotypes From GWAS Catalog for CEP295NL Gene

Gene Ontology (GO) - Molecular Function for CEP295NL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008191 metalloendopeptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with CEP295NL: view

Phenotypes for CEP295NL Gene

GenomeRNAi human phenotypes for CEP295NL:
genes like me logo Genes that share phenotypes with CEP295NL: view

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CEP295NL Gene

Localization for CEP295NL Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP295NL Gene

Cell projection, cilium. Note=Colocalizes to the motile cilium of mature spermatozoa. {ECO:0000250}.

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CEP295NL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005929 cilium IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with CEP295NL: view

No data available for Subcellular locations from COMPARTMENTS for CEP295NL Gene

Pathways & Interactions for CEP295NL Gene

SuperPathways for CEP295NL Gene

No Data Available

Interacting Proteins for CEP295NL Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000312767%0d%0a9606.ENSP00000219070%0d%0a
Selected Interacting proteins: ENSP00000312767 Q96MC4-C295L_HUMAN for CEP295NL Gene via STRING IID

Gene Ontology (GO) - Biological Process for CEP295NL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010951 negative regulation of endopeptidase activity IEA --
genes like me logo Genes that share ontologies with CEP295NL: view

No data available for Pathways by source and SIGNOR curated interactions for CEP295NL Gene

Drugs & Compounds for CEP295NL Gene

No Compound Related Data Available

Transcripts for CEP295NL Gene

mRNA/cDNA for CEP295NL Gene

(2) REFSEQ mRNAs :
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for CEP295NL Gene

No ASD Table

Relevant External Links for CEP295NL Gene

GeneLoc Exon Structure for
CEP295NL
ECgene alternative splicing isoforms for
CEP295NL

Expression for CEP295NL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CEP295NL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CEP295NL Gene



NURSA nuclear receptor signaling pathways regulating expression of CEP295NL Gene:

CEP295NL
genes like me logo Genes that share expression patterns with CEP295NL: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CEP295NL Gene

Orthologs for CEP295NL Gene

This gene was present in the common ancestor of chordates.

Orthologs for CEP295NL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC100609898 33
  • 99.11 (n)
-- 34
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LOC100125412 33
  • 67.22 (n)
mouse
(Mus musculus)
Mammalia BC100451 33 34
  • 61.45 (n)
Cep295nl 16
rat
(Rattus norvegicus)
Mammalia Ddc8 33
  • 59.85 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 37 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 11 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 25 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 17 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii KIAA1731 34
  • 31 (a)
OneToMany
Species where no ortholog for CEP295NL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CEP295NL Gene

ENSEMBL:
Gene Tree for CEP295NL (if available)
TreeFam:
Gene Tree for CEP295NL (if available)

Paralogs for CEP295NL Gene

Paralogs for CEP295NL Gene

genes like me logo Genes that share paralogs with CEP295NL: view

Variants for CEP295NL Gene

Sequence variations from dbSNP and Humsavar for CEP295NL Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000021645 -- 78,903,335(-) A/G upstream_transcript_variant
rs1000172760 -- 78,899,154(-) G/C intron_variant
rs1000225238 -- 78,896,407(-) G/A intron_variant
rs1000286333 -- 78,900,950(-) C/G/T intron_variant
rs1000384917 -- 78,894,820(-) AAAAAAAAAA/AAAAAAAAA/AAAAAAAAAAA intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CEP295NL Gene

Variant ID Type Subtype PubMed ID
nsv1066843 CNV gain 25217958
esv3554834 CNV deletion 23714750
esv2031325 CNV deletion 18987734

Additional Variant Information for CEP295NL Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEP295NL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for CEP295NL Gene

Disorders for CEP295NL Gene

Additional Disease Information for CEP295NL

No disorders were found for CEP295NL Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CEP295NL Gene

Publications for CEP295NL Gene

  1. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. (PMID: 25017104) Kottyan LC … Rothenberg ME (Nature genetics 2014) 3 58
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 58
  5. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3

Products for CEP295NL Gene

Sources for CEP295NL Gene

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